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        "hgvsWellDefined": "NP_000457.1:p.Leu1188Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3562C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3562C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Leu1188Val"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Leu1188Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3476,
          "referenceAllele": "C",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.3391C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Leu1131Val",
        "hgvsWellDefined": "NP_001269606.1:p.Leu1131Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.2938C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Leu980Val",
        "hgvsWellDefined": "NP_001269607.1:p.Leu980Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}